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NM_000492.4(CFTR):c.1141A>T (p.Lys381Ter) AND Cystic fibrosis

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Oct 2, 2017
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000583796.3

Allele description [Variation Report for NM_000492.4(CFTR):c.1141A>T (p.Lys381Ter)]

NM_000492.4(CFTR):c.1141A>T (p.Lys381Ter)

Gene:
CFTR:CF transmembrane conductance regulator [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q31.2
Genomic location:
Preferred name:
NM_000492.4(CFTR):c.1141A>T (p.Lys381Ter)
HGVS:
  • NC_000007.14:g.117542040A>T
  • NG_016465.4:g.81257A>T
  • NM_000492.4:c.1141A>TMANE SELECT
  • NP_000483.3:p.Lys381Ter
  • NP_000483.3:p.Lys381Ter
  • LRG_663t1:c.1141A>T
  • LRG_663:g.81257A>T
  • LRG_663p1:p.Lys381Ter
  • NC_000007.13:g.117182094A>T
  • NM_000492.3:c.1141A>T
Protein change:
K381*
Links:
dbSNP: rs1554381605
NCBI 1000 Genomes Browser:
rs1554381605
Molecular consequence:
  • NM_000492.4:c.1141A>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Cystic fibrosis (CF)
Synonyms:
Mucoviscidosis
Identifiers:
MONDO: MONDO:0009061; MedGen: C0010674; Orphanet: 586; OMIM: 219700

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000692320Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
no assertion criteria provided
Pathogenic
(Oct 29, 2015) 		germlineclinical testing

SCV002614657Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Oct 2, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital, SCV000692320.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Ambry Genetics, SCV002614657.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.K381* pathogenic mutation (also known as c.1141A>T), located in coding exon 9 of the CFTR gene, results from an A to T substitution at nucleotide position 1141. This changes the amino acid from a lysine to a stop codon within coding exon 9. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 1, 2024